FlyBase Allele Report: Dmel\cav[1]

General Information

Symbol

Dmel\cav¹

Species

D. melanogaster

Name

FlyBase ID

FBal0150540

Feature type

allele

Associated gene

Dmel\cav

Associated Insertion(s)

Carried in Construct

Also Known As

cav

Key Links

Allele class

amorphic allele - genetic evidence

Mutagen

ethyl methanesulfonate

Nature of the Allele

Allele class

amorphic allele - genetic evidence

(Cenci et al., 2003)

Mutagen

ethyl methanesulfonate

(Cenci et al., 2003)

Progenitor genotype

Cytology

Description

5bp deletion at the 3' end of cav that results in a stop codon at amino acid position 282.

(Cenci et al., 2003)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

Variant Molecular Consequences

Associated Sequence Data

DDBJ / EMBL / GenBank

DNA sequence

Protein sequence

UniProtKB/Swiss-Prot

UniProtKB/TrEMBL

Expression Data

Reporter Expression

Additional Information

Statement

Reference

Marker for

Reflects expression of

Reporter construct used in assay

Human Disease Associations

Disease Ontology (DO) Annotations

Models Based on Experimental Evidence ( 0 )

Disease

Evidence

References

Modifiers Based on Experimental Evidence ( 0 )

Disease

Interaction

References

Comments on Models/Modifiers Based on Experimental Evidence ( 0 )

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

Phenotype Manifest In

chromosome, telomeric region

(Cenci et al., 2003)

chromosome | adult stage | male (with Df(3R)Exel6198), with cav^HipHop.GFP

(Dubruille and Loppin, 2015)

chromosome | larval stage

(Cenci et al., 2015)

larval neuroblast

(Cenci et al., 2015)

metaphase & condensed nuclear chromosome

(Cenci et al., 2003)

mitotic metaphase

(Cenci et al., 2003)

neuroblast | larval stage (with cav²²⁴⁸)

(Kuang et al., 2014)

spermatid (with Df(3R)Exel6198), with cav^HipHop.GFP

(Dubruille and Loppin, 2015)

Detailed Description

Statement

Reference

In cav¹ homozygous larvae, neuroblasts exhibit telomeric fusions, particularly in autosomes.

(Cenci et al., 2015)

Severe neuroblast loss is seen in the brains of cav¹/cav²²⁴⁸ mutant larvae. Many of the remaining neuroblasts exhibit necrosis markers, including aggregation of mitochondria, elevated levels of calcium ions and the presence of ubiquitin-conjugated protein aggregates.

(Kuang et al., 2014)

Approximately two-fold fewer male cav¹ mutant larvae are observed than female homozygotes.

(Li et al., 2011)

Homozygotes die at the larval/pupal boundary. Metaphases from mutant larval brains display frequent end-to-end attachments (TAs) that involve all telomeres. Approximately 99% of mutant metaphases have at least one TA, with a mean number of four TAs per cell. Polyploid metaphases (21/310) and metaphases with chromosome rearrangements (15/310) are seen, which are probably the consequence of unresolved chromatin bridges.

(Cenci et al., 2003)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Enhanced by

Statement

Reference

cav¹/Df(3R)Exel6198, cav^HipHop.GFP has male semi-sterile phenotype, enhanceable by Df(3R)ms(3)K81-2/+

(Dubruille and Loppin, 2015)

cav¹/Df(3R)Exel6198, cav^HipHop.GFP has male semi-sterile phenotype, enhanceable by HipHop¹/HipHop[+]

(Dubruille and Loppin, 2015)

cav¹/Df(3R)Exel6198, cav^HipHop.GFP has male semi-sterile phenotype, enhanceable by ver^S147910/ver[+]

(Dubruille and Loppin, 2015)

Df(3R)ms(3)K81-2, cav[+]/cav¹, cav^HipHop.GFP, ms(3)K81^GFP has male semi-sterile phenotype, enhanceable by Df(3R)Exel6198

(Dubruille and Loppin, 2015)

Suppressed by

Statement

Reference

cav¹/Df(3R)Exel6198, cav^HipHop.GFP has male semi-sterile phenotype, suppressible | partially by moi¹/moi[+]

(Dubruille and Loppin, 2015)

Suppressor of

Statement

Reference

cav¹ is a suppressor of partially lethal - majority die | dominant | maternal effect phenotype of Su(var)205⁵, Sxl^fP7B0

(Li et al., 2011)

Other

Statement

Reference

cav¹, peo¹/peo[+] has abnormal mitotic cell cycle | larval stage phenotype

(Cenci et al., 2015)

Df(3R)ms(3)K81-2, cav[+]/cav¹, cav^HipHop.GFP, ms(3)K81^GFP has male semi-sterile phenotype

(Dubruille and Loppin, 2015)

Phenotype Manifest In

Enhanced by

Statement

Reference

cav¹/Df(3R)Exel6198, cav^HipHop.GFP has spermatid phenotype, enhanceable by Df(3R)ms(3)K81-2/Df(3R)ms(3)K81-2

(Dubruille and Loppin, 2015)

cav¹/Df(3R)Exel6198, cav^HipHop.GFP has chromosome | adult stage | male phenotype, enhanceable by Df(3R)ms(3)K81-2/Df(3R)ms(3)K81-2

(Dubruille and Loppin, 2015)

cav¹/Df(3R)Exel6198, cav^HipHop.GFP has spermatid phenotype, enhanceable by Df(3R)ms(3)K81-2/+

(Dubruille and Loppin, 2015)

cav¹/Df(3R)Exel6198, cav^HipHop.GFP has chromosome | adult stage | male phenotype, enhanceable by Df(3R)ms(3)K81-2/+

(Dubruille and Loppin, 2015)

cav¹/Df(3R)Exel6198, cav^HipHop.GFP has spermatid phenotype, enhanceable by HipHop¹/HipHop[+]

(Dubruille and Loppin, 2015)

cav¹/Df(3R)Exel6198, cav^HipHop.GFP has chromosome | adult stage | male phenotype, enhanceable by HipHop¹/HipHop[+]

(Dubruille and Loppin, 2015)

Other

Statement

Reference

cav¹, peo¹/peo[+] has larval neuroblast phenotype

(Cenci et al., 2015)

cav¹, peo¹/peo[+] has FlyBase_internalproperty type:chromosome:chromosome | larval stage phenotype

(Cenci et al., 2015)

Additional Comments

Genetic Interactions

Statement

Reference

peo¹, cav¹ double heterozygosity leads to telomeric fusions in larval neuroblasts.

(Cenci et al., 2015)

The fertility of ms(3)K81^T:Avic\GFP/+;Df(3R)ms(3)K81-2/Df(3R)ms(3)K81-2 as well as cav^{HipHop.T:Avic\GFP}/Y;cav¹/+ adult males is normal, males of the combined genotype cav^{HipHop.T:Avic\GFP}/Y;ms(3)K81^T:Avic\GFP/+;cav¹,Df(3R)ms(3)K81-2/Df(3R)ms(3)K81-2 display only slight decrease in fertility but this is dramatically enhanced by combination with Df(3R)Exel6198 - cav^{HipHop.T:Avic\GFP}/Y;ms(3)K81^T:Avic\GFP/+;cav¹,Df(3R)ms(3)K81-2/Df(3R)Exel6198,Df(3R)ms(3)K81-2 males are almost completely sterile.

The slightly reduced fertility of cav^{HipHop.T:Avic\GFP}/Y;cav¹/Df(3R)Exel6198 adult (cav¹ rescue) males is significantly enhanced by combination with Df(3R)ms(3)K81-2 and also by combination with HipHop¹ albeit less strongly. The fertility of cav^{HipHop.T:Avic\GFP}/Y;cav¹,Df(3R)ms(3)K81-2/HipHop¹,Df(3R)Exel6198 males is intermediate to that of cav^{HipHop.T:Avic\GFP}/Y;cav¹/Df(3R)Exel6198 males combined with either the Df(3R)ms(3)K81-2 or the HipHop¹ allele alone.

The increased number of abnormal spermatid nuclei (showing chromatin bridges) characteristic for adult cav^{HipHop.T:Avic\GFP};cav¹/Df(3R)Exel6198 males is strongly enhanced by combination with Df(3R)ms(3)K81-2 in homozygous or, to a lesser degree, in heterozygous state. Enhancement of the abnormal nuclear phenotype is also observed upon combination with single copy of HipHop¹ as well as ver^S147910 but the phenotype is not aggravated further by combination with heterozygous moi¹ allele.

(Dubruille and Loppin, 2015)

The introduction of cav¹ into Su(var)205⁵ mothers when crossed to Sxl^fP7B0 males suppresses the Su(var)205⁵ maternal effect on female viability in the progeny.

(Li et al., 2011)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Rescued by

cav¹ is rescued by cav^hs.PS

(Cenci et al., 2003)

Partially rescued by

cav¹/Df(3R)Exel6198 is partially rescued by cav^HipHop.GFP

(Dubruille and Loppin, 2015)

Comments

The lethality of cav¹/Df(3R)Exel6198 flies is rescued by combination with cav^{HipHop.T:Avic\GFP}. The adult cav^{HipHop.T:Avic\GFP};cav¹/Df(3R)Exel6198 males have normal-sized testes and their fertility is only slightly decreased compared to controls.

(Dubruille and Loppin, 2015)

Images (0)

Mutant

Wild-type

Stocks (1)

Bloomington

64180

cav¹ ca¹/TM6B, Tb¹ ca¹

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (2)

Reported As

Symbol Synonym

cav

(Raffa et al., 2005, Badugu et al., 2003, Cenci et al., 2003)

cav¹

(Porrazzo et al., 2022, Saint-Leandre et al., 2020, Zhang et al., 2016, Cenci et al., 2015, Dubruille and Loppin, 2015, Kuang et al., 2014, Zhang et al., 2014, Li et al., 2011, Gao et al., 2010, Raffa et al., 2010, Bi et al., 2005)

Name Synonyms

Secondary FlyBase IDs

References (14)

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